70 research outputs found

    Web-based laboratory service

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    The internet has revolutionized not only the clinical laboratory operation but has also made laboratory service more user friendly. With its help the laboratory can provide precise and up to date information about the services and laboratory tests to offer, furthermore can provide insight into the different operating procedures. AIM: To provide an overview of the laboratory services in an easily accessible manner, promote efficient information transfer to the clinicians, familiarize the test repertoire in different classifications, provide information on tests requiring special sampling and transportation, create a search engine for tests performed, provide in a downloadable format the different order forms and the specifications of the newly introduced tests, provide links to websites relevant to the field, familiarize with the departments educational and research activities. RESULTS: With the creation of our own website we have provided clinicians and students with a practical, easily accessible, user friendly tool that provides details of our services and activities, furthermore the number of preanalytical queries has also reduced significantly. CONCLUSIONS: Unfortunately, in the present Hungarian healthcare system few users utilize adequately the possibilities offered by the internet, however, departments like ours and others are making efforts to change this tendency.N2 - The internet has revolutionized not only the clinical laboratory operation but has also made laboratory service more user friendly. With its help the laboratory can provide precise and up to date information about the services and laboratory tests to offer, furthermore can provide insight into the different operating procedures. AIM: To provide an overview of the laboratory services in an easily accessible manner, promote efficient information transfer to the clinicians, familiarize the test repertoire in different classifications, provide information on tests requiring special sampling and transportation, create a search engine for tests performed, provide in a downloadable format the different order forms and the specifications of the newly introduced tests, provide links to websites relevant to the field, familiarize with the departments educational and research activities. RESULTS: With the creation of our own website we have provided clinicians and students with a practical, easily accessible, user friendly tool that provides details of our services and activities, furthermore the number of preanalytical queries has also reduced significantly. CONCLUSIONS: Unfortunately, in the present Hungarian healthcare system few users utilize adequately the possibilities offered by the internet, however, departments like ours and others are making efforts to change this tendenc

    Platelet vinculin: a substrate of activated factor XIII

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    In addition to plasma, Factor XIII of blood coagulation (FXIII) is also present in the cytosol of platelets, monocytes and macrophages. However, its intracellular function has not yet been revealed. Activated Factor XIII (FXIIIa) is a transglutaminase (protein-glutamine: amine gamma-glutamyltransferase, EC 2.3.2.13) of highly restricted substrate specificity with only a few known protein substrates. In this report, we showed that FXIIIa can link dansylcadaverine, radiolabelled histamine and putrescine to vinculin. Quantitative determinations revealed that in the vinculin molecule a single glutamine residue can serve as acyl donor for the incorporation of small-molecular-weight amines. Vinculin could not be crosslinked to another vinculin molecule. It could be covalently bound, however, to fibrinogen, which indicates that the acyl donor glutamine residue can be engaged in an epsilon-(gamma-glutamyl)lysyl crosslink formation. Since it has been shown that platelet actin and myosin, two main components of cytoskeleton, are also substrates for FXIIIa, and that vinculin is associated to the cytoskeleton during platelet activation, the involvement of FXIII in the stabilization of cytoskeleton at certain phases of cellular function is a likely possibilit

    Congenital Hyperinsulinism Caused by a De Novo Mutation in the ABCC8 Gene: A Case Report

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    Congenital hyperinsulinism (CHI) is a rare genetic disorder characterized by inappropriate insulin secretion and severe hypoglycaemia. There are two histological subtypes: diffuse and focal form. Diffuse form is most common in autosomal recessive mutations in ABCC8/KCNJ11 gene, while focal CHI is caused a paternally inherited mutation and a somatic maternal allele loss. Here we report a case of a term male infant presented with severe hyperinsulinaemic hypoglycaemia. Gene panel testing was performed to give rapid genetic diagnosis. We detected the c.4415-13G>A heterozygous mutation in the ABCC8 gene. Targeted genetic testing of the parents proved the de novo origin of the mutation. The mutation has been previously described. The infant received octreotide treatment and is prepared for 18-fluoro-dopa PET-CT examination in order to localize the lesion. Rapid genetic testing might be crucial in the clinical management strategy, with decision algorithms taking into account of the genetic status of the patient
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